About: nodeID://b50950613

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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007645
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	Bernard-Soulier syndrome
annotatedTarget	A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
database_cross_reference	url:https://www.ncbi.nlm.nih.gov/pubmed/10706630 url:https://www.ncbi.nlm.nih.gov/pubmed/8481514 url:https://www.ncbi.nlm.nih.gov/pubmed/8703016 url:https://www.ncbi.nlm.nih.gov/pubmed/9616133
is topic of	Human Disease Ontology

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